Rare Disease News and Research

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Scientists identify lab-made proteins that neutralize a broad range of influenza A viruses

Scientists have identified a small family of lab-made proteins that neutralize a broad range of influenza A viruses, including the H5N1 avian virus, the 1918 pandemic influenza virus and seasonal H1N1 flu viruses.

23 Feb 2009

FDA approves orphan drug ATryn anticoagulant

The U.S. Food and Drug Administration has issued its first approval for a biological product produced by genetically engineered (GE) animals.

8 Feb 2009

Study tests salsalate anti-inflammatory for poorly controlled type 2 diabetes

Researchers in 20 medical centers across the country are enrolling adults with type 2 diabetes who have poorly controlled blood glucose to participate in a clinical study, Targeting Inflammation with Salsalate in Type 2 Diabetes (TINSAL-T2D).

5 Feb 2009

Discovery of new cause of ozone wheezing and potential treatments

Researchers at the National Institute of Environmental Health Sciences (NIEHS), part of the National Institutes of Health, and Duke University have discovered a cause of airway irritation and wheezing after exposure to ozone, a common urban air pollutant.

3 Feb 2009

Brain cells called astrocytes, not neurons, lull the brain to sleep

Brain cells called astrocytes help to cause the urge to sleep that comes with prolonged wakefulness, according to a study in mice, funded by the National Institutes of Health.

2 Feb 2009

FDA approves RiaSTAP for bleeding in patients with congenital fibrinogen deficiency

The U.S. Food and Drug Administration has licensed RiaSTAP, an orphan drug for the treatment of bleeding in patients with a rare genetic defect known as congenital fibrinogen deficiency. Without treatment, these patients are at risk of potentially life-threatening bleeding.

18 Jan 2009

Study shows how defective DNA repair triggers 2 neurological diseases

Scientists at St. Jude Children's Research Hospital have teased apart the biological details distinguishing two related neurological diseases-ataxia telangiectasia-like disease (ATLD) and Nijmegen breakage syndrome (NBS).

15 Jan 2009

Scientists explain genetic disease first discovered in Quebec 24 years ago

Scientists at the MUHC and McGill University have identified a gene essential for the uptake of vitamin B12 in human cells.

15 Jan 2009

Discovery of new regulatory circuit controlling immune cell production in mice

Using a mouse model, researchers have shown that elevated levels of a small protein known as interleukin 7 (IL-7) plays a central role in regulating the production of a type of white blood cell that is required for effective immune responses.

12 Jan 2009

New cataract early detection device

A compact fiber-optic probe developed for the space program has now proven valuable for patients in the clinic as the first non-invasive early detection device for cataracts, the leading cause of vision loss worldwide.

8 Jan 2009

The prevalence of gluten-sensitive enteropathy in iron-deficient anemia patients

Gluten sensitive enteropathy (GSE) is an autoimmune enteropathy due to food gluten intolerance in genetically predisposed people.

1 Jan 2009

New online tool for calculating colorectal cancer risk

A new online tool for calculating colorectal cancer risk in men and women age 50 or older was launched today, based on a new risk-assessment model developed by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health.

1 Jan 2009

Updated guidelines for irritable bowel syndrome

Although irritable bowel syndrome (IBS) is the most common disease diagnosed by gastroenterologists, it's also one of the most misunderstood.

18 Dec 2008

Timothy syndrome provides clues about enzyme role in arrhythmias

A University of Iowa study provides insight into a calcium-sensing enzyme already known to play a role in irregular heartbeats and other critical functions.

12 Dec 2008

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Antineoplaston treatment for gliomas granted orphan drug designation by FDA

The Burzynski Research Institute, Inc. (BRI) has announced that its antineoplaston A10 and antineoplaston AS2-1 therapy (ANP) has been granted orphan drug designation by the U.S. Food and Drug Administration ("FDA") for the treatment of gliomas. It is estimated that in 2008 more than 21,000 men and women in the U.S. will be diagnosed with this type of cancer, with prevalence estimated at approximately 84,000 cases.

2 Dec 2008

Gut found to exert control over bone

When it comes to remodeling our bones-an ongoing process of break down and renewal that goes on throughout adulthood--researchers have new evidence that our guts play a surprisingly important role.

26 Nov 2008

FDA approves GSK's Promacta (Eltrombopag)

GlaxoSmithKline has announced that the United States Food and Drug Administration (FDA) granted accelerated approval for PROMACTA (eltrombopag) for the treatment of thrombocytopenia in patients with chronic immune (idiopathic) thrombocytopenic purpura (ITP) who have had an insufficient response to corticosteroids, immunoglobulins or splenectomy.

20 Nov 2008

Pycnodysostosis sheds light on enzyme's role in bone metabolism

Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature.

5 Nov 2008

Discovery of mechanism and possible drug treatment for growth of nerve tumors in neurofibromatosis

Researchers studying neurofibromatosis type 1 - a rare disease in which tumors grow within nerves - have found that the tumors are triggered by crosstalk between cells in the nerves and cells in the blood.

30 Oct 2008